ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.517G>C (p.Asp173His)

dbSNP: rs763718380
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802842 SCV000942687 uncertain significance Gastrointestinal stromal tumor 2021-11-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 648175). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (rs763718380, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 173 of the PDGFRA protein (p.Asp173His).
Ambry Genetics RCV002336615 SCV002641461 likely benign Hereditary cancer-predisposing syndrome 2021-11-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV004569595 SCV005055151 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2024-02-22 criteria provided, single submitter clinical testing
GeneDx RCV004773163 SCV005386914 uncertain significance not provided 2024-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.